DPY19L4

Summary

DPY19L4 (dpy-19 like 4, HGNC:27829) is a protein-coding gene on chromosome 8q22.1, encoding Probable C-mannosyltransferase DPY19L4 (Q7Z388). Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins.

Predicted to enable mannosyltransferase activity. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum membrane.

Source: NCBI Gene 286148 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 132 total
• MANE Select transcript: NM_181787

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27829
Approved symbol	DPY19L4
Name	dpy-19 like 4
Location	8q22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000156162
Ensembl biotype	protein_coding
OMIM	613895
Entrez	286148

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 14 protein_coding, 2 nonsense_mediated_decay

ENST00000414645, ENST00000519176, ENST00000519353, ENST00000520774, ENST00000521525, ENST00000522422, ENST00000522669, ENST00000523020, ENST00000874077, ENST00000874078, ENST00000874079, ENST00000874080, ENST00000874081, ENST00000874082, ENST00000941771, ENST00000941772

RefSeq mRNA: 1 — MANE Select: NM_181787 NM_181787

CCDS: CCDS34924

Canonical transcript exons

ENST00000414645 — 19 exons

Exon	Start	End
ENSE00001024939	94781084	94781166
ENSE00001088829	94770452	94770571
ENSE00001088831	94766612	94766685
ENSE00001241419	94768395	94768553
ENSE00001241430	94765711	94765809
ENSE00001241438	94765183	94765314
ENSE00001241444	94761700	94761834
ENSE00001241449	94756036	94756159
ENSE00001310202	94734630	94734754
ENSE00001325278	94777666	94777786
ENSE00001330902	94739645	94739790
ENSE00001336546	94780359	94780415
ENSE00001336767	94726331	94726441
ENSE00001742198	94789746	94793836
ENSE00002113891	94719900	94720014
ENSE00003567498	94783670	94783802
ENSE00003598203	94787894	94788052
ENSE00003608409	94738369	94738459
ENSE00003626784	94739413	94739534

Expression profiles

Bgee: expression breadth ubiquitous, 277 present calls, max score 96.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.6772 / max 73.7226, expressed in 1769 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
89797	9.9999	1752
89798	0.8190	526
89796	0.5564	329
89799	0.3019	109

Top tissues by expression

292 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	96.67	gold quality
germinal epithelium of ovary	UBERON:0001304	93.19	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.57	gold quality
calcaneal tendon	UBERON:0003701	91.87	gold quality
tibia	UBERON:0000979	91.35	gold quality
choroid plexus epithelium	UBERON:0003911	90.81	gold quality
pigmented layer of retina	UBERON:0001782	90.70	gold quality
ventricular zone	UBERON:0003053	90.06	gold quality
stromal cell of endometrium	CL:0002255	89.56	gold quality
parietal pleura	UBERON:0002400	88.95	gold quality
endometrium epithelium	UBERON:0004811	88.73	gold quality
endothelial cell	CL:0000115	87.94	gold quality
pleura	UBERON:0000977	87.86	gold quality
skin of hip	UBERON:0001554	87.78	gold quality
endometrium	UBERON:0001295	87.71	gold quality
visceral pleura	UBERON:0002401	87.46	gold quality
palpebral conjunctiva	UBERON:0001812	87.16	gold quality
corpus callosum	UBERON:0002336	87.11	gold quality
gingival epithelium	UBERON:0001949	86.79	gold quality
sural nerve	UBERON:0015488	86.78	gold quality
colonic epithelium	UBERON:0000397	86.66	gold quality
subthalamic nucleus	UBERON:0001906	85.35	gold quality
seminal vesicle	UBERON:0000998	85.20	gold quality
upper leg skin	UBERON:0004262	85.06	gold quality
tendon	UBERON:0000043	84.85	gold quality
ovary	UBERON:0000992	84.74	gold quality
inferior vagus X ganglion	UBERON:0005363	84.67	gold quality
mucosa of stomach	UBERON:0001199	84.46	gold quality
adrenal gland	UBERON:0002369	84.38	gold quality
ganglionic eminence	UBERON:0004023	84.21	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.17
E-ENAD-17	no	463.84

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

187 targeting DPY19L4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-363-3P	99.98	74.72	1821

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Dpy19l4	ENSMUSG00000045205
rattus_norvegicus	Dpy19l4	ENSRNOG00000025416
drosophila_melanogaster	CG6659	FBGN0030946

Paralogs (3): DPY19L1 (ENSG00000173852), DPY19L2 (ENSG00000177990), DPY19L3 (ENSG00000178904)

Protein

Protein identifiers

Probable C-mannosyltransferase DPY19L4 — Q7Z388 (reviewed: Q7Z388)

Alternative names: Dpy-19-like protein 4, Protein dpy-19 homolog 4

All UniProt accessions (8): Q7Z388, E5RGB7, E5RGH1, H0YAT0, H0YBI1, H0YBK6, H0YBL6, H0YBV9

UniProt curated annotations — full annotation on UniProt →

Function. Probable C-mannosyltransferase that mediates C-mannosylation of tryptophan residues on target proteins.

Subcellular location. Membrane.

Tissue specificity. Widely expressed.

Similarity. Belongs to the dpy-19 family.

RefSeq proteins (1): NP_861452* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018732	Dpy-19/Dpy-19-like	Family
IPR047464	Dpy19L4	Family

Pfam: PF10034

UniProt features (20 total): transmembrane region 12, sequence conflict 3, initiator methionine 1, chain 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z388-F1	85.47	0.59

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 156 (showing top): CATTTCA_MIR203, ONKEN_UVEAL_MELANOMA_UP, NIKOLSKY_BREAST_CANCER_8Q12_Q22_AMPLICON, chr8q22, DODD_NASOPHARYNGEAL_CARCINOMA_UP, BASAKI_YBX1_TARGETS_DN, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, NUYTTEN_EZH2_TARGETS_DN, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, LEE_RECENT_THYMIC_EMIGRANT, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, GOMF_MANNOSYLTRANSFERASE_ACTIVITY, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY

GO Biological Process (0):

GO Molecular Function (4): mannosyltransferase activity (GO:0000030), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (2): endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
hexosyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

758 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DPY19L4	TMEM9B	Q9NQ34	543
DPY19L4	FAM131A	Q6UXB0	540
DPY19L4	CCNQ	Q8N1B3	535
DPY19L4	NOC4L	Q9BVI4	531
DPY19L4	VWA7	Q9Y334	528
DPY19L4	GK5	Q6ZS86	512
DPY19L4	SLC45A1	Q9Y2W3	507
DPY19L4	LRRC3	Q9BY71	493
DPY19L4	KCNK17	Q96T54	493
DPY19L4	HABP4	Q5JVS0	493
DPY19L4	C1QL2	Q7Z5L3	491
DPY19L4	COQ5	Q5HYK3	486
DPY19L4	KCNH8	Q96L42	462
DPY19L4	TMTC3	Q6ZXV5	455
DPY19L4	AKR1D1	P51857	453

IntAct

61 interactions, top by confidence:

A	B	Type	Score
SLC10A7	DPY19L4	psi-mi:“MI:0915”(physical association)	0.710
HTR2C	KLRG2	psi-mi:“MI:0914”(association)	0.530
MCOLN3	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
ZACN	GPAA1	psi-mi:“MI:0914”(association)	0.530
TMPRSS12	FZD6	psi-mi:“MI:0914”(association)	0.530
SLC10A7	APOB	psi-mi:“MI:0914”(association)	0.530
ADGRG5	KLRG2	psi-mi:“MI:0914”(association)	0.530
CLGN	NPC1	psi-mi:“MI:0914”(association)	0.530
CHRND	TPST2	psi-mi:“MI:0914”(association)	0.530
SLC22A15	ZFPL1	psi-mi:“MI:0914”(association)	0.530
CYB5D2	SUN1	psi-mi:“MI:0914”(association)	0.530
CUL4B	APBB1	psi-mi:“MI:0914”(association)	0.350
CUL5	DDX3X	psi-mi:“MI:0914”(association)	0.350
UPK1A	TMEM223	psi-mi:“MI:0914”(association)	0.350
SLC17A2	PSMD11	psi-mi:“MI:0914”(association)	0.350
VNN2	ATP2A1	psi-mi:“MI:0914”(association)	0.350
HTR3A	GPAA1	psi-mi:“MI:0914”(association)	0.350
CHRND	EXTL3	psi-mi:“MI:0914”(association)	0.350
PNLDC1	C1QL1	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
CCDC47	ESYT2	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
ZACN	FAM234B	psi-mi:“MI:0914”(association)	0.350
CHRNB2	TMEM131L	psi-mi:“MI:0914”(association)	0.350

BioGRID (61): DPY19L4 (Affinity Capture-RNA), DPY19L4 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS)

ESM2 similar proteins: A0A067DFU5, A0A067E3D8, A0A1E1FFM9, A0A1Y0BRF5, A0A9Y1LNE1, A0A9Y1LQX3, A2AJQ3, A2ARJ3, A9RA88, B6HV37, B6JWP7, F4HW17, O48962, O59802, O64761, O74870, O94673, P0DXH1, P25338, P38312, P47111, P70245, Q06537, Q0V982, Q10255, Q12155, Q28GF5, Q3TUD9, Q4V7N7, Q54VP1, Q55E32, Q5F3W2, Q5F410, Q5R687, Q5R8N9, Q5U3Y7, Q60490, Q641M3, Q66HF2, Q6DCP8

Diamond homologs: A2AJQ3, Q5R8N9, Q5RCJ4, Q6NXN4, Q6ZPD9, Q71B07, Q7Z388, A6X919, A8Y3M2, D4AD75, P34413, Q2PZI1, P0CW70, Q6NUT2, Q6ZN68

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 79 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Neurotransmitter receptors and postsynaptic signal transmission	6	11.1×	1e-03
Transmission across Chemical Synapses	6	8.5×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
membrane depolarization	5	35.5×	7e-05
monoatomic ion transmembrane transport	10	28.9×	8e-10
locomotory behavior	5	12.4×	2e-03
chemical synaptic transmission	6	6.4×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

132 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	79
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2994 predictions. Top by Δscore:

Variant	Effect	Δscore
8:94720008:G:GT	donor_gain	1.0000
8:94720062:G:GT	donor_gain	1.0000
8:94720062:G:T	donor_gain	1.0000
8:94726442:G:GG	donor_gain	1.0000
8:94739535:G:GG	donor_gain	1.0000
8:94739641:ATAG:A	acceptor_gain	1.0000
8:94739786:AACAG:A	donor_loss	1.0000
8:94739788:CAGG:C	donor_loss	1.0000
8:94739789:AGG:A	donor_loss	1.0000
8:94739790:GGT:G	donor_loss	1.0000
8:94739791:GTAA:G	donor_loss	1.0000
8:94761830:ACAAG:A	donor_gain	1.0000
8:94766607:TCTA:T	acceptor_loss	1.0000
8:94766608:CTA:C	acceptor_loss	1.0000
8:94766609:TAG:T	acceptor_loss	1.0000
8:94766610:A:AG	acceptor_gain	1.0000
8:94766610:A:AT	acceptor_loss	1.0000
8:94766610:AGAT:A	acceptor_gain	1.0000
8:94766611:G:GG	acceptor_gain	1.0000
8:94766611:GA:G	acceptor_gain	1.0000
8:94766611:GAT:G	acceptor_gain	1.0000
8:94766611:GATG:G	acceptor_gain	1.0000
8:94766611:GATGT:G	acceptor_gain	1.0000
8:94766683:CAAG:C	donor_loss	1.0000
8:94766684:AAG:A	donor_loss	1.0000
8:94766686:G:C	donor_loss	1.0000
8:94766686:G:GG	donor_gain	1.0000
8:94766687:TAAG:T	donor_loss	1.0000
8:94768389:CTATA:C	acceptor_loss	1.0000
8:94768390:TATAG:T	acceptor_loss	1.0000

AlphaMissense

4761 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:94739726:A:C	S183R	0.999
8:94739728:T:A	S183R	0.999
8:94739728:T:G	S183R	0.999
8:94789797:T:C	C687R	0.999
8:94781151:T:C	L567P	0.998
8:94789798:G:A	C687Y	0.998
8:94789799:T:G	C687W	0.998
8:94789840:T:C	F701S	0.998
8:94739774:T:A	W199R	0.997
8:94739774:T:C	W199R	0.997
8:94787987:T:A	C648S	0.997
8:94787987:T:C	C648R	0.997
8:94787988:G:A	C648Y	0.997
8:94787988:G:C	C648S	0.997
8:94789797:T:A	C687S	0.997
8:94789798:G:C	C687S	0.997
8:94787943:T:C	L633P	0.996
8:94789795:T:C	F686S	0.996
8:94739425:T:C	L119P	0.995
8:94756082:T:A	W220R	0.995
8:94756082:T:C	W220R	0.995
8:94787989:C:G	C648W	0.995
8:94739756:G:A	G193R	0.994
8:94739756:G:C	G193R	0.994
8:94739757:G:A	G193E	0.994
8:94777707:C:A	A499E	0.994
8:94777713:G:A	G501D	0.994
8:94777733:T:A	W508R	0.994
8:94777733:T:C	W508R	0.994
8:94787988:G:T	C648F	0.994

dbSNP variants (sampled 300 via entrez): RS1000069017 (8:94787053 T>A,C,G), RS1000069688 (8:94742208 A>T), RS1000130126 (8:94748692 A>G), RS1000157835 (8:94775415 A>C), RS1000191406 (8:94757471 G>A,C), RS1000241227 (8:94754449 C>T), RS1000293443 (8:94720492 A>G), RS1000300700 (8:94736123 G>T), RS1000336843 (8:94787336 C>A), RS1000368848 (8:94719093 T>C), RS1000376148 (8:94726966 A>G), RS1000411540 (8:94760292 T>G), RS1000484869 (8:94718858 G>A), RS1000502245 (8:94748485 G>A), RS1000520045 (8:94776689 G>A,T)

Disease associations

OMIM: gene MIM:613895 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST011320_17	Type 2 diabetes or prostate cancer (pleiotropy)	2.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	4
bisphenol A	decreases expression, decreases methylation	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	decreases reaction, affects binding	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
manganese chloride	increases abundance, increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Bortezomib	increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cadmium	increases abundance, increases expression	1
Catechin	affects cotreatment, decreases expression	1
Lead	increases expression	1
Manganese	increases abundance, increases expression	1
Methyl Methanesulfonate	increases expression	1
Phthalic Acids	decreases methylation	1
Cadmium Chloride	increases expression, increases abundance	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.